Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication.

ABSTRACT: Treatment-resistant epilepsy is among the most serious complications of cardiofaciocutaneous syndrome (CFCS), a rare disorder caused by germline variants in the RAS-MAPK signaling pathway. This study analyzed the clinical characteristics of epilepsy and response to anti-seizure medications (ASMs) in a multinational CFCS cohort. A caregiver survey provided data regarding seizure history, use of ASMs and other treatment approaches, adverse effects, caregiver perception of treatment response, and neurological disease burden impact among individuals with CFCS. Results from 138 survey responses were quantitatively analyzed in conjunction with molecular genetic results and neurological records. The disease burden impact of CFCS was higher among individuals with epilepsy (n = 74/138), especially

SUBMITTER: Kenney-Jung DL 

PROVIDER: S-EPMC10843452 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature